ClinVar Miner

List of variants studied for West syndrome by OMIM

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) rs879255631 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) rs786205159

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